A11E (p.Ala11Glu) variant of B2M (Beta-2-microglobulin)
A11E (p.Ala11Glu) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IMD43. The record also includes variant effect predictions and structural context.
A11E (p.Ala11Glu) variant details
- p.Ala11Glu
- TOPMed rs1440025860
- gnomAD rs1440025860
- Uncertain significance
- in IMD43
- Missense
- MetaLR 0.01
- MetaSVM -0.97
- SIFT 0.32
- EBI: Variant of uncertain significance (in IMD43)
- UniProt: Uncertain significance (in IMD43)
- Structural context available